Canonical Allele Identifier: CA2202953528

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791893_3791894delinsCT , CM000678.2:g.3791893_3791894delinsCT	GRCh38
NC_000016.9:g.3841894_3841895delinsCT , CM000678.1:g.3841894_3841895delinsCT	GRCh37
NC_000016.8:g.3781895_3781896delinsCT	NCBI36
NG_009873.1:g.93227_93228delinsAG
NG_009873.2:g.93820_93821delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1330+87_1330+88delinsAG MANE Select	ENSP00000262367.5:n.1330+87_1330+88delinsAG
ENST00000262367.9:c.1330+87_1330+88delinsAG	ENSP00000262367.5:n.1330+87_1330+88delinsAG
ENST00000382070.7:c.1216+1492_1216+1493delinsAG	ENSP00000371502.3:n.1216+1492_1216+1493delinsAG
NM_001079846.1:c.1216+1492_1216+1493delinsAG	NP_001073315.1:n.1216+1492_1216+1493delinsAG
NM_004380.2:c.1330+87_1330+88delinsAG	NP_004371.2:n.1330+87_1330+88delinsAG
XM_005255124.3:c.1330+87_1330+88delinsAG	XP_005255181.1:n.1330+87_1330+88delinsAG
XM_005255125.3:c.1330+87_1330+88delinsAG	XP_005255182.1:n.1330+87_1330+88delinsAG
XM_006720848.2:c.1330+87_1330+88delinsAG	XP_006720911.1:n.1330+87_1330+88delinsAG
XM_011522380.1:c.1276+87_1276+88delinsAG	XP_011520682.1:n.1276+87_1276+88delinsAG
XM_011522381.1:c.577+87_577+88delinsAG	XP_011520683.1:n.577+87_577+88delinsAG
XM_011522382.1:c.1330+87_1330+88delinsAG	XP_011520684.1:n.1330+87_1330+88delinsAG
XM_005255124.4:c.1330+87_1330+88delinsAG	XP_005255181.1:n.1330+87_1330+88delinsAG
XM_005255125.4:c.1330+87_1330+88delinsAG	XP_005255182.1:n.1330+87_1330+88delinsAG
XM_006720848.3:c.1330+87_1330+88delinsAG	XP_006720911.1:n.1330+87_1330+88delinsAG
XM_011522381.2:c.577+87_577+88delinsAG	XP_011520683.1:n.577+87_577+88delinsAG
XM_011522382.3:c.1330+87_1330+88delinsAG	XP_011520684.1:n.1330+87_1330+88delinsAG
XM_017022944.1:c.1330+87_1330+88delinsAG	XP_016878433.1:n.1330+87_1330+88delinsAG
NM_004380.3:c.1330+87_1330+88delinsAG MANE Select	NP_004371.2:n.1330+87_1330+88delinsAG